|
1
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0011097)
|
Epileptic spasms |
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
9
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
10
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
11
|
(OMIM)
|
Impaired coordination |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Impaired balance |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Speech and language regression |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Generalized spike-wave activity seen on EEG |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Diffuse slowing |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Multifocal spikes |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Slow spike-wave discharges |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
20
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
21
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|